OMIA group 402
Gangliosidosis, GM1
The chain reaches the human disease GM1 gangliosidosis type 1, which Mondo defines as: “GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations.” It reaches 3 more human diseases, listed below.
The chain
From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.
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Animal disease
Reached
OMIA records it in 4 species entries marked as a defect.
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Human disease
Reached
4 Mondo diseases.
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Human gene
Reached
1 human gene.
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Target evidence
Reached
4 Open Targets associations, with a best score of 0.85.
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Drugs
Stopped here
No ChEMBL drug acts on a human gene of the group's target evidence.
The chain stopped at Drugs: No ChEMBL drug acts on a human gene of the group's target evidence.
Natural-model score
How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.
64.7 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.85 | 29.7 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 4 naturally occurring species entries marked as a defect | 10.0 of 10 |
64.7 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.85 | 29.7 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 4 naturally occurring species entries marked as a defect | 10.0 of 10 |
64.5 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.84 | 29.5 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 4 naturally occurring species entries marked as a defect | 10.0 of 10 |
64.5 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.84 | 29.5 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 4 naturally occurring species entries marked as a defect | 10.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| dog | Canis lupus familiaris | OMIA:000402-9615 | Yes |
| domestic cat | Felis catus | OMIA:000402-9685 | Yes |
| domestic cattle | Bos taurus | OMIA:000402-9913 | Yes |
| emu | Dromaius novaehollandiae | OMIA:000402-8790 | Unknown, not counted |
| sheep | Ovis aries | OMIA:000402-9940 | Yes |
Genes
Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.
| Species | Animal gene | Human gene | Ortholog |
|---|---|---|---|
| dog | GLB1 galactosidase, beta 1 NCBI Gene 403873 | GLB1 Ensembl | one to one |
| domestic cat | GLB1 galactosidase, beta 1 NCBI Gene 493927 | GLB1 Ensembl | one to one |
| domestic cattle | No gene | OMIA records no gene for this species entry. | |
| sheep | GLB1 galactosidase beta 1 NCBI Gene 101112930 | GLB1 Ensembl | one to one |
| emu Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
Human diseases
Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.
- OMIA's own Mondo link: OMIA links the group to no Mondo disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0009260 | GM1 gangliosidosis type 1 GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations. | OMIA's OMIM numbers |
| MONDO:0009261 | GM1 gangliosidosis type 2 GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age. | OMIA's OMIM numbers |
| MONDO:0009262 | GM1 gangliosidosis type 3 GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction. | OMIA's OMIM numbers |
| MONDO:0009660 | mucopolysaccharidosis type 4B A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature. | OMIA's OMIM numbers |
Target evidence
Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.
| Human gene | Human disease | Score | Evidence | Kinds of evidence |
|---|---|---|---|---|
| GLB1 | mucopolysaccharidosis type 4B | 0.85 | 1,329 | Genetic association 0.92 Genetic literature 0.88 Literature 0.19 |
| GLB1 | GM1 gangliosidosis type 1 | 0.85 | 306 | Genetic association 0.95 Genetic literature 0.88 Literature 0.08 |
| GLB1 | GM1 gangliosidosis type 3 | 0.84 | 197 | Genetic association 0.93 Genetic literature 0.86 Literature 0.02 |
| GLB1 | GM1 gangliosidosis type 2 | 0.84 | 208 | Genetic association 0.93 Genetic literature 0.89 Somatic mutation 0.55 Literature 0.03 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.